Linked Data
ClinVar Variation Id:
349357
dbSNP Id:
rs886059539
gnomAD v2:
4-6304849-G-A
gnomAD v3:
4-6303122-G-A
gnomAD v4:
4-6303122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6303122G>A , CM000666.2:g.6303122G>A | GRCh38 |
| NC_000004.11:g.6304849G>A , CM000666.1:g.6304849G>A | GRCh37 |
| NC_000004.10:g.6355750G>A | NCBI36 |
| NG_011700.1:g.38273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*654G>A | ENSP00000507852.1:n.*654G>A | |
| ENST00000683395.1:c.3304G>A | ||
| ENST00000684087.1:c.*654G>A | ENSP00000506978.1:n.*654G>A | |
| ENST00000673991.1:c.*654G>A | ENSP00000501033.1:n.*654G>A | |
| ENST00000226760.5:c.*654G>A MANE Select | ENSP00000226760.1:n.*654G>A | |
| ENST00000507765.1:n.3512G>A | ||
| NM_001145853.1:c.*654G>A | NP_001139325.1:n.*654G>A | |
| NM_006005.3:c.*654G>A MANE Select | NP_005996.2:n.*654G>A | |
| XM_017008586.1:c.*654G>A | XP_016864075.1:n.*654G>A | |
| XR_001741566.2:n.1823C>T |